Living with the ‘Breast Cancer Gene’

26/Oct/2020     Health

Each person’s unique genetic makeup plays a big role in how they look, how they might act and even how their body would respond to illness or fight off disease

Genes are inherited from parents and familial lines, and can make both big and small differences, from whether someone has naturally red hair all the way through to how likely someone may be to develop cancers.

The BRCA gene helps to protect the body and fight away certain cancers and whilst everyone has this gene, if the gene has a mutation it can increase the carrier’s chance of developing breast, ovarian, prostate and pancreatic cancer, as well as melanomas. In Australia, the BRCA genetic mutation is found in approximately one in 400 men and women.   

Clinical Nurse at Mater Amy Gibbs unknowingly inherited one of the two types of BRCA mutations from her family which saw her have up to a 69 per cent chance of developing breast cancer by the age of 70, and a 20 per cent risk of developing ovarian cancer. Comparatively, the average woman has a 12% chance of developing breast cancer in their lifetime.

In February of this year, this chance percentage became a reality for Amy at just 27 years of age. Having found a lump in her breast, Amy was quickly diagnosed with Triple Negative Breast Cancer—one of the most aggressive types of breast cancer. 

“After my diagnosis, my medical team advised me to begin fertility conservation treatment followed by chemotherapy and further treatments. I underwent two months of fertility preservation which allowed us to collect six embryos,” Amy shared.

“The hardest part of fertility treatment was knowing that some of these embryos may have the BRCA mutation which would mean each of my children would have a 50% chance of developing cancers as well. Today, I am unsure of whether I will be able to have children in the future ‘naturally’ but these preserving embryos at least provided me with a chance.”

Amy underwent initial chemotherapy treatment for five months which consisted of two months of AC therapy (a combination of two chemotherapy drugs), followed by a further three months of Taxol drug therapy.

“During these treatments I was put into medically-induced menopause to protect my ovaries and hopefully maintain function to conceive naturally. I also lost everything that I thought made me a woman – my long hair, beautiful eyebrows and eyelashes, but my husband told me I looked beautiful each and every day.”

It was throughout her chemotherapy treatment that genetic testing revealed that Amy’s breast cancer had stemmed from having the BRCA Type 2 Mutation.

“After learning of my BRCA 2 mutation, my doctors told me that a double mastectomy was the best option for my long-term outcomes and I was also advised that because of this mutation I would need to have my ovaries and fallopian tubes removed at 40 to stop my risk of later developing ovarian cancer as well.”

Later this year in November Amy will undergo her double mastectomy and begin a reconstruction process, as well as continue having regular ultrasounds to monitor her ovaries and yearly skin checks. Amy shared that despite this, her current focus is on encouraging her family to undergo genetic testing.

“Given this is a genetic mutation, I am encouraging my extended family to undergo genetic testing to ensure we can all be aware of our predispositions and prevent this happening to anyone else. If positive to the mutation, they will hopefully be placed on a high-risk screening program which will see them have more regular ultrasounds and mammograms, regardless of their age.”

“It has already been revealed that brother and father have the BRCA 2 mutation as well, so they will being regular skin checks, prostate and breast cancer screening regularly.

Through Amy’s experience, she is taking this Breast Cancer Awareness Month as an opportunity to promote the importance of understanding genetic predispositions to cancers.

“I would encourage anyone who has had cancer to undergo genetic testing to find out if their cancer can be linked to this predisposition as it may end up saving a family member’s life in the future.

“I would also encourage young women to advocate for their own understanding of the warning signs of breast cancer, ask questions and stand up for themselves if something does not feel right.

Amy’s journey with breast cancer treatment is far from over, but has just last month returned to working at Mater Private Hospital Brisbane with an aim to slowly rehabilitate back into the workplace.

By supporting Mater Chicks in Pink you can make an immediate impact on the lives of women with breast cancer and their families today, as well as contribute to promising research which will benefit the women who walk through our doors tomorrow and well into the future.

This Breast Cancer Awareness Month, make an impact and support Mater Chicks in Pink here, or to support Amy’s very own Mater Chicks in Pink fundraiser, visit here.

Pictured: Amy with her dad, Bevan Partridge and my brother, Joshua Partridge.

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